Variant report

Variant	rs7930675
Chromosome Location	chr11:108788174-108788175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10502103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11212824	0.86[ASN][1000 genomes]
rs11828110	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574721	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12574758	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12575278	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577382	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577980	0.85[EUR][1000 genomes]
rs12785398	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12794048	0.81[AMR][1000 genomes]
rs12794597	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12795663	0.80[EUR][1000 genomes]
rs12796331	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12801974	0.81[AMR][1000 genomes]
rs12802313	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12803616	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12808060	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12808674	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17108571	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17108579	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17108608	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17108703	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108744	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2553749	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553750	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553751	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2615756	0.85[ASN][1000 genomes]
rs2726896	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28736339	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34350110	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34354308	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34363971	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34451436	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34593113	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34651663	0.93[ASN][1000 genomes]
rs34805458	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34848528	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34942750	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35085871	0.81[EUR][1000 genomes]
rs35244070	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35430545	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35517426	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35754206	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35756735	0.85[ASN][1000 genomes]
rs36006135	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36034048	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36043878	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4317954	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57014838	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57484308	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71489918	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71489919	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71489922	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71489925	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71489928	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71489929	0.86[ASN][1000 genomes]
rs898972	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv39083	chr11:108786697-108792970	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
2	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:108768000-108810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:108769000-108791200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:108769200-108788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:108769800-108789600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:108775000-108794400	Weak transcription	Aorta	Aorta
8	chr11:108777200-108797000	Weak transcription	Psoas Muscle	Psoas
9	chr11:108778000-108799600	Weak transcription	HMEC	breast
10	chr11:108778200-108810600	Weak transcription	Ovary	ovary
11	chr11:108780600-108810600	Weak transcription	Pancreas	Pancrea
12	chr11:108780800-108790000	Weak transcription	Dnd41	blood
13	chr11:108781600-108810400	Weak transcription	GM12878-XiMat	blood
14	chr11:108781800-108793200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:108782200-108792000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:108783000-108810600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:108784200-108796600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:108784400-108793200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:108784400-108804000	Weak transcription	K562	blood
20	chr11:108785000-108788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:108785200-108807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:108785600-108788200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:108786000-108790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:108786000-108793000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:108786200-108788200	Enhancers	Osteobl	bone
26	chr11:108786200-108789600	Weak transcription	Primary T cells from cord blood	blood
27	chr11:108786400-108810600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:108787000-108810800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:108787200-108788200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:108787200-108799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:108787200-108799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:108787200-108799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:108787200-108815000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:108787400-108795000	Weak transcription	Brain Germinal Matrix	brain
35	chr11:108787400-108810600	Weak transcription	Liver	Liver
36	chr11:108787600-108793200	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:108787600-108795200	Weak transcription	A549	lung
38	chr11:108787600-108799400	Weak transcription	NHEK	skin
39	chr11:108787800-108791200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:108787800-108798000	Weak transcription	Fetal Thymus	thymus
41	chr11:108787800-108798000	Weak transcription	HSMMtube	muscle
42	chr11:108788000-108793200	Weak transcription	NH-A	brain
43	chr11:108788000-108793800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:108788000-108793800	Weak transcription	HUVEC	blood vessel
45	chr11:108788000-108798600	Weak transcription	HSMM	muscle
46	chr11:108788000-108799800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:108788000-108802000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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